Rare Disease Podcasts

📝Full show notes: https://syngap.fund/n145   2020 COBA GRANT https://keck.usc.edu/news/ksom-researcher-awarded-130000-from-syngap-research-fund-to-study-rare-genetic-disease/  SYNGAP.FUND/IPSC > https://curesyngap1.org/ips-cell-models/   2022 QUADRATO GRANT & 2022/3 PAPER MAY 22 PRE-PRINT: https://www.biorxiv.org/content/10.1101/2022.05.10.491244v1.full  SRF PR: https://www.eurekalert.org/news-releases/1050685   2022 ANDERSON GRANT & 2024 PAPER    Webinar: https://curesyngap1.org/resources/webinars/evaluation-of-a-stem-cell-gene-therapy-approach-for-syngap1/ Announcement: https://www.linkedin.com/posts/curesyngap1_syngap1-srfresearch-stemcelltherapy-activity-7215557722614743041-rxOV  Angelman: https://pubmed.ncbi.nlm.nih.gov/33856035/ Transformatx Biotheraputics LLC: https://cureangelman.org/fast-announces-formation-of-lentiviral-gene-therapy-company MNDU3: https://www.fiercepharma.com/pharma/fda-wants-classwide-boxed-warning-all-commercial-car-t-therapies-amid-secondary-cancer    TAKEAWAY: Focus on the clinic, and let the best therapy win.   CLINICAL NETWORK / NHS UPDATE COLORADO webinar postponed, still register, we will notify you via email of the new date. https://syngap.fund/Abbott    To sign up for the Colorado clinic please contact SRF Ops Manager, Lauren Perry, [email protected].    CALIFORNIA SYNAPTOPATHY CLINIC (CSC) starting to see patients, if you are in CA call them. https://curesyngap1.org/blog/srf-announces-stanford-launches-california-synaptopathy-clinic/   FUNDRAISING Missense Account of the Fund $10k+ https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund Emmy $5k+ https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research  YOU? https://curesyngap1.org/blog/fundraising-the-backbone-of-research/   CALENDAR MANAGEMENT Rare Across America is 24 days away, registration ends in 10 days! https://everylifefoundation.org/rare-advocates/rare-across-america/    Conference is 146 days away & Registration is live! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf    CB Blood Donation accelerates Science! STXBP1 conference (Philadelphia, PA, July 19-21, 2024) Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024) HNRNPH2 conference (Seattle, WA, July 29-30, 2024) PWS/USP7 conference (Atlanta, GA, September 26-27, 2024) COMBINEDBrain conference (Kansas City, MO, September 29th, 2024) SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)   NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US  - 1,050 YouTube.  https://www.youtube.com/@CureSYNGAP1   - 3,685 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 10,724 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 415 TikTok https://www.tiktok.com/@curesyngap1 Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 145 of #Syngap10 - July 11, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

Norma Herrera nos acompaña desde Argentina. Ella es mamá de Olivia- Olivia tiene 3 años y fue diagnosticada con Syngap1 en Noviembre 2023. Norma es Kinesiologa de profesión, pudiendo así detectar alteraciones en el desarrollo de una niña tan pequeña y siguiendo su instinto maternal nos habla sobre su incesante búsqueda para el diagnóstico correcto de su hija. Nos da una vista rápida de como es el día a día con Olivia y sus necesidades especiales también de cómo enfrenta el diagnóstico de Syngap1 con positivismo de un mejor mañana. Bio de ⁠⁠⁠⁠Merlina⁠⁠⁠⁠ Información sobre SRF & SYNGAP1: ⁠⁠⁠⁠Syngap Research Fund⁠⁠⁠⁠ ⁠⁠⁠⁠Que es SYNGAP1?⁠⁠⁠⁠ ⁠⁠⁠⁠Recursos en Español⁠⁠⁠⁠ Donaciones: ⁠⁠⁠⁠https://syngap.fund/Donate⁠⁠⁠⁠ ⁠⁠⁠⁠SYNGAP1 & Epilepsia⁠⁠⁠⁠ ⁠⁠⁠⁠Porque es Importante Obtener un Diagnóstico Genético⁠⁠⁠⁠ ⁠⁠⁠⁠Cómo Obtener Pruebas Genéticas Gratuitas en EEUU⁠⁠⁠⁠ ⁠⁠⁠⁠Planificación Financiera Futura para las Personas con Discapacidades ⁠⁠⁠⁠ Comentarios: ⁠⁠⁠⁠⁠[email protected]⁠⁠⁠⁠⁠ Conéctate con SRF (@curesyngap1): ⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Video Podcast⁠⁠⁠ Semanal⁠⁠⁠⁠⁠⁠ con Mike Episodio 16 Café SYNGAP1, Julio 4, 2024 #CafeSYNGAP1 #Syngap #SYNGAP1 #CafeSYNGAP1Olivia #Argentina #epilepsia #epilepsy #epilepsyawareness #autismo #autismawareness #discapacidadintelectual #id #enfermedadesraras #FondodeInvestigacionSYNGAP #SynGAPResearchFund #abogacia #defensadelpaciente #advocacy #patientadvocacy #neurologia #pruebasgeneticas #terapias #familia #apoyo

ONCE UPON A GENE - EPISODE 233 Are You Worried About Your Baby's Development - Enroll in Project FIND-OUT - You May Qualify for Free Whole Genome Sequencing LINKS AND RESOURCES MENTIONED Project Findout https://projectfindout.org/ CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

📝Full show notes: https://syngap.fund/n144     CENSUS = 1,454  https://curesyngap1.org/how-many-people-have-syngap1-census/ STX version! https://www.stxbp1disorders.org/news/stxbp1-census-q1-2024    FUNDRAISING Missense Account of the Fund https://www.linkedin.com/posts/curesyngap1_syngap1-srd-autism-activity-7213973153071472640-uSYEExplainer - https://www.youtube.com/watch?v=C9bGOA2MFHc  Pipeline - https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/  Emmy  https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research  YOU? https://curesyngap1.org/blog/fundraising-the-backbone-of-research/   PHARMA https://www.longboardpharma.com/ http://longboardpharma.gcs-web.com/news-releases/news-release-details/longboard-pharmaceuticals-receives-breakthrough-therapy   CIRM Petition - https://www.linkedin.com/feed/update/urn:li:activity:7210079591275626497  Post - https://www.linkedin.com/posts/nashafitter_rareasone-activity-7212446744511414272-B8qx  Talk - https://david293.substack.com/p/text-of-comments-by-mike-graglia    HOPE - Caring for your SYNGAPian Rainy’s drive - https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/  My visit - https://www.facebook.com/permalink.php?story_fbid=pfbid0SFg2Mx8jxkS8oeStYn5yqEhYgWVAhhQeX8WiSGQqhPcxpTgtyG1TtbaPMBMTAmVGl&id=100088305909698 Keto is powerful, and tricky https://curesyngap1.org/resources/webinars/keto-mad-syngap-parents-experience-syngap1/ Heat is not good - We need a blog here… Adenoids and tonsils are an issue - https://curesyngap1.org/blog/syngap-sleep-you-could-be-one-more-test-away-from-helping-your-syngapian-thrive/    CLINICAL NETWORK / NHS UPDATE COLORADO webinar next week! https://syngap.fund/Abbott July 11, 2024 at 9 Pacific.   CALIFORNIA SYNAPTOPATHY CLINIC (CSC) starting to see patients, if you are in CA call them. https://curesyngap1.org/blog/srf-announces-stanford-launches-california-synaptopathy-clinic/   CALENDAR MANAGEMENT Rare Across America is 34 days away, registration ends in 10 days! https://everylifefoundation.org/rare-advocates/rare-across-america/    Conference is 156 days away & Registration is live! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf    SHOUTOUTS JACKIE NEW ED OF NCSA https://www.ncsautism.org/blog/ed Jess, Zoe, Lauren, Ed, Suzanne, Heather, Corey…    CB Blood Donation accelerates Science! STXBP1 conference (Philadelphia, PA, July 19-21, 2024) Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024) HNRNPH2 conference (Seattle, WA, July 29-30, 2024) PWS/USP7 conference (Atlanta, GA, September 26-27, 2024) COMBINEDBrain conference (Kansas City, MO, September 29th, 2024) SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)   NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US  - 1,040 YouTube.  https://www.youtube.com/@CureSYNGAP1   - 3,660 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 10,659 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 415 TikTok https://www.tiktok.com/@curesyngap1 Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 144 of #Syngap10 - July 2, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

📝Full show notes: https://syngap.fund/n143     BIO WAS GREAThttps://www.linkedin.com/posts/nashafitter_bio2024-activity-7204906035000582145-Meyp  GRANTS APPROVED Multiple grants and agreements approved, wait for press releases.  Thank you Aaron & Sarah, Lauren!FUNDRAISING  - Great work to MDBR - Almost $45k, that will be added to $30k! https://charity.pledgeit.org/t/jY577u7uMc Awesome Peter, Heather, Aaron, Justin Albrect & Kali Worth.  Also Dr Jillian McKee!  - Blane & Ashley Dallen in Canada raised almost $15k via a tournament.   NHS UPDATE Colorado should start seeing patients in August!  Don’t cancel CHOP appointments, some people have no choice.   CHATS WITH INDUSTRY Prevalence:  They are easily missed.  The math is clear.  Lots of data.  1% of ID = 35k+ 1/100k at 3.6m in 2023 = 36 a year, minimum with PTV. 5/100k = 180. A YEAR. Caren is 65. 36 x 65 = 2,340 PTVs vs 400 SRF knows about) https://curesyngap1.org/blog/why-are-we-so-sure-that-syngap1-related-intellectual-disability-is-under-diagnosed/   CALENDAR MANAGEMENT Rare Across America is 28 days away, register now: https://everylifefoundation.org/rare-advocates/rare-across-america/    Conference is 170 days away & Registration is live! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf    CB Blood Donation accelerates Science! STXBP1 conference (Philadelphia, PA, July 19-21, 2024) Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024) HNRNPH2 conference (Seattle, WA, July 29-30, 2024) PWS/USP7 conference (Atlanta, GA, September 26-27, 2024) COMBINEDBrain conference (Kansas City, MO, September 29th, 2024) SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)   SHOUTOUTS  - Zoe https://curesyngap1.org/blog/parents-take-action-after-syngap1-related-disorder-diagnosis/  - We need a Pavel award.   NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US  - 1,030 YouTube.  https://www.youtube.com/@CureSYNGAP1   - 10,421 Twitter https://twitter.com/cureSYNGAP1  - 3,652 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 49k Insta https://www.instagram.com/curesyngap1/ - 397 TikTok https://www.tiktok.com/@curesyngap1 Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 143 of #Syngap10 - June 18, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

Bienvenidos a Café Syngap1! Hoy para honrar a los padres, nos acompaña Gonzalo Bermejo. Es el Presidente de la Asociación Syngap1 España, coach y autor del libro "Cómo aprender de la discapacidad de tu hijo". Es padre de Carlota, quien tiene la enfermedad rara Syngap1. Gonzalo es un padre atípico y resiliente que enfrenta la discapacidad con valentía y busca ayudar a otros en su camino. Nos habla sobre su experiencia como padre de Carlota y nos invita a valorar los pequeños detalles de la vida donde se encuentra la verdadera felicidad. Consiga "Como Aprender de la Discapacidad de Tu Hijo" Bio de ⁠⁠⁠Merlina⁠⁠⁠ Información sobre SRF & SYNGAP1: ⁠⁠⁠Syngap Research Fund⁠⁠⁠ ⁠⁠⁠Que es SYNGAP1?⁠⁠⁠ ⁠⁠⁠Recursos en Español⁠⁠⁠ Donaciones: ⁠⁠⁠https://syngap.fund/Donate⁠⁠⁠ ⁠⁠⁠SYNGAP1 & Epilepsia⁠⁠⁠ ⁠⁠⁠Porque es Importante Obtener un Diagnóstico Genético⁠⁠⁠ ⁠⁠⁠Cómo Obtener Pruebas Genéticas Gratuitas en EEUU⁠⁠⁠ ⁠⁠⁠Planificación Financiera Futura para las Personas con Discapacidades ⁠⁠⁠ Comentarios: ⁠⁠⁠⁠[email protected]⁠⁠⁠⁠ Conéctate con SRF (@curesyngap1): ⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Video Podcast⁠⁠⁠ Semanal⁠⁠⁠⁠⁠ con Mike Episodio 15 Café SYNGAP1, Junio 12, 2024 #CafeSYNGAP1 #Syngap #SYNGAP1 #CafeSYNGAP1Carlota #España #epilepsia #epilepsy #epilepsyawareness #autismo #autismawareness #discapacidadintelectual #id #enfermedadesraras #FondodeInvestigacionSYNGAP #SynGAPResearchFund #abogacia #advocacy #patientadvocacy #neurologia #pruebasgeneticas #terapias #familia #apoyo

Full show notes: https://syngap.fund/n142    BIG NHS UPDATE 66 Kids evaluated, 11 have had follow-ups, ~20 new kids scheduled. Colorado should start seeing patients in August! WHERE TO DONATE MONEY: MDBR is next week, donate now! https://charity.pledgeit.org/t/jY577u7uMc Thanks to the team. https://Syngap.Fund/Unite   BLOOD: June 7 & 8, Loews Coronado Bay Resort, email [email protected] TIME TO JOIN #TEAMSRF  - Volunteer Webinar: https://syngap.fund/LT - Fifty families lent their good names to SRF in this wonderful blog: https://syngap.fund/Community   - https://curesyngap1.org/volunteer-with-srf/    CHATS WITH INDUSTRY  - Is IT delivery a blocker for precision therapies, NO!  - 2026 is feeling like the earliest we see trials.  - BIO with Kathryn next week! CALENDAR MANAGEMENT Rare Across America is 66 days away, register now: https://everylifefoundation.org/rare-advocates/rare-across-america/    Conference is 188 days away: https://curesyngap1.org/events/conferences/syngap1-conference-2024/   PUBLICATION ALERT https://x.com/cureSYNGAP1/status/1795837761678962799    NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US  - 1,020 YouTube.  https://www.youtube.com/@CureSYNGAP1   - 10,000 Twitter https://twitter.com/cureSYNGAP1  - 3,591 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 49k Insta https://www.instagram.com/curesyngap1/ - 392 TikTok https://www.tiktok.com/@curesyngap1 Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 142 of #Syngap10 - May 31, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

JOIN SRF LT on Thursday: Volunteer Info session with Leadership Team is this week:  https://syngap.fund/LT Thursday 5/23 at 5:30 Pacific.   MDBR is 3 weeks away! https://Syngap.Fund/Unite   $5k match https://x.com/phalliburton/status/1792288377049415835   It’s all about therapies.  Precision Genetic and Repurposed.   Conferences are where we engage professional communities around SYNGAP1 & SRF.  - Last week I was at Milken Global.  All diseases are talking about biomarkers & endpoints. https://milkeninstitute.org/events/global-conference-2024/program  - This week I was at the #Ultragenyx Bootcamp with our CSO https://www.ultragenyx.com/video-this-bootcamp-helps-parents-advance-rare-disease-research/ So good to see Kathryn energized by this role.  - ASGCT was last week and that means announcements…  - Kathryn and I are off to BIO in June in San Diego.   Ionis for Angelman https://www.linkedin.com/posts/cureangelman_exciting-news-for-the-angelman-syndrome-community-activity-7196872264976322563-_rvX  Capsida for STX https://www.linkedin.com/posts/graglia_capsida-biotherapeutics-presents-new-preclinical-activity-7194004214635716608-M01Y  Encoded for STX https://www.linkedin.com/posts/stxbp1-foundation_encoded-therapeutics-provides-pipeline-updates-activity-7196942568859787265-leKO  Nasha at FOXG1 https://www.youtube.com/watch?v=ELKijSx0uwQ   Repurposed therapies are just as important.   Cost effective.  Globally available. They are here now.  We must act, the suffering is immense. They show us what is improvable and therefore inform clinical trial design. They are not compromising other trials.  And to even suggest that is unethical if it suggests people should hold off on helping patients.  How about we just diagnose more kids?  Or think harder about which kids go to which trials? Precision Genetic Therapies are going to be more effective than repurposed drugs, people will happily participate in trials.   Review of repurposed drugs: RAVICTI Rx- 10+ patients with Dr. Grinspan, not all but a few have had significant seizure reduction.  I remain worried about cost and look to STXBP1 and SLC6A1 for guidance here. NORTRIPTYLINE Rx - Has helped me, a handful of families are getting a Rx.  I am hopeful that some researcher does an investigator led trial.  But until then, ask your Neuro. ACETYL-LEUCINE is a Nutraceutical - Update 1 has really been noticed and Update 2 will share a few potential mechanisms of action.  Many are trying this drug from https://bit.ly/tanganil24 Encouraging… no, updating.  Please share data with us if you are trying.  We are collecting case studies for Update 3.  Thank you to the team here.   NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US  - 1,010 YouTube.  https://www.youtube.com/@CureSYNGAP1   - 9,900 Twitter https://twitter.com/cureSYNGAP1  - 3,560 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 49k TikTok https://www.instagram.com/curesyngap1/ Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 141 of #Syngap10 - May 20, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

Read Jackie’s article on profound autism, be grateful she is an SRF Leader. https://helenjournal.org/april-2024/achieving-equity    Watch Brett’s 2 min talk on his son, he’s on your team too. https://x.com/UFDTech/status/1785111914168594894    Look at all these families that raise a quarter million dollars via #Sprint4Syngap 2024 syngap.fund/sprint24 - https://givebutter.com/ALjJXJ  - $243k, 844 donors  - Kaia’s event was wonderful https://curesyngap1.org/syngap-warriors/kaia/ - Reef’s family also found connection by helping SRF, video coming soon.   Conferences are where we engage professional communities around SYNGAP1 & SRF.  - Last week Vicky was at WODC. https://www.terrapinn.com/conference/world-orphan-drug-congress-usa/ - This week Heather Mestemaker was at the GG DDC. https://globalgenes.org/event/rare-disease-drug-development/  - Next week I’ll be at Milken Global, it takes a team. https://milkeninstitute.org/events/global-conference-2024/program It takes a village.   We need to support efforts to help our kids and accept that the system will always fall short, the need for a strong SRF will only grow.  The more we unify, the faster it grows.   v1 Drugs - Data - Biomarkers & Endpoints v2 now we add Improve Clinical Care (NHS Expansion & Repurposing) - Build a sustainable organization.   NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS  - 990 YouTube.  https://www.youtube.com/@CureSYNGAP1   - 3,552 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 9,852 Twitter https://twitter.com/cureSYNGAP1  - 49k TikTok https://www.instagram.com/curesyngap1/ Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 140 of #Syngap10 - May 2, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

Connect with Kara, host of The Special Needs Mom Podcast: Instagram: https://www.instagram.com/thespecialneedsmompodcast/ Website: https://www.kararyska.com/ Coaching Opportunities Pathway to Peace {Group Coaching Program}: Schedule a Consult or Contact Me Join The Special Needs Mom Podcast Community FaceBook Group!! Click here to Request to Join

SRF is a “Get-to…” not a “Have-to..”  Do something & Go big.  #S10e139 Talking with John Get vs Have (https://www.youtube.com/watch?v=J5oBo9zcRUE)SRF is the same:- Raise Funds to Change the Future- Volunteer, contribute to a larger effort- Connect with other families- Share our experience to make broader knowledge- Learn from each other and scientists Raise Funds#Sprint4SYNGAP 2024 syngap.fund/sprint24 - https://givebutter.com/ALjJXJ - Newsletter https://mailchi.mp/curesyngap1.org/sprint4syngap?e=8531ca92fd  - $197k, 521 donors - See you Saturday, enjoy it. - It’s a get to, people get to support our incredible efforts. VolunteerACTION IS THE ANTIDOTE TO DESPAIR - Joan Baez - State Reps - May 3rd! - Advocates - Jackie Kancir and Jess Johnson are killing it. - Many other roles  - DEI too. Connect with other Families - Jaxon Movie is up https://curesyngap1.org/resources/movies/ - Sprint events. Volunteer. Etc. - Hope drove across the country  Fundraiser https://givebutter.com/zDUIfN  Reel https://www.facebook.com/reel/421525020629131   Interview https://curesyngap1.org/podcasts/syngap1-stories/ #28 Share our experience to make broader knowledge - FB: www.facebook.com/groups/syngap/  - CHOP is at 99! [email protected]  - Cinci is still recruiting too. Info - https://drive.google.com/file/d/1jLAIe6FTNRGlhPZpouDlYJNPv-d6ICNW/view?usp=drive_link; Survey - https://redcap.research.cchmc.org/surveys/?s=4CYCNJ47RCL7HLN8 Learn from each other & scientists - https://curesyngap1.org/podcasts/cafe-syngap1/  - Coming soon: Missense Server is Awesome, Frogs too. - NAL: https://curesyngap1.org/blog/drug-repurpose-update-1-tanganil-acetyl-leucine-for-potential-management-of-syngap1-related-disorder-symptoms/ - Remember new families have resources too! https://syngap.fund/Resources  I’m learning too!  Just accepted to #LeadersLink of #FasterCures! - Presshttps://milkeninstitute.org/article/leaderslink-cohort-2024-2025-fastercures  - X https://x.com/JMGraglia/status/1782778094589460812  - LinkedIn https://www.linkedin.com/posts/graglia_please-join-us-in-welcoming-the-newest-leaderslink-activity-7188548477889449987-DmAX SOCIAL MATTERS - 979 Subscribers on YouTube.  https://www.youtube.com/@CureSYNGAP1  - 3,529 Subscribers on LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 9,846 Followers on Twitter https://twitter.com/cureSYNGAP1 Podcasts, give all of these a five star review!SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 139 of #Syngap10 - April 23, 2024#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

Ahora nos vamos al Sur de América para oír la historia de Diana Ramirez y su hija Luhana. Su caso fue el primer diagnóstico con Syngap1 encontrado en Perú. Con un reciente diagnóstico, Diana nos abre las puertas de su hogar para contarnos todo sobre el proceso de obtener un diagnóstico y cómo poco a poco se va informando y conociendo más de Syngap1 con el propósito de ayudar a su hija. Entre todo, nos demuestra su valentía y resiliencia para salir adelante. Bio de ⁠⁠Merlina⁠⁠ Información sobre SRF & SYNGAP1: ⁠⁠Syngap Research Fund⁠⁠ ⁠⁠Que es SYNGAP1?⁠⁠ ⁠⁠Recursos en Español⁠⁠ Donaciones: ⁠⁠https://syngap.fund/Donate⁠⁠ ⁠⁠SYNGAP1 & Epilepsia⁠⁠ ⁠⁠Porque es Importante Obtener un Diagnóstico Genético⁠⁠ ⁠⁠Cómo Obtener Pruebas Genéticas Gratuitas en EEUU⁠⁠ ⁠⁠Planificación Financiera Futura para las Personas con Discapacidades ⁠⁠ Comentarios: ⁠⁠⁠[email protected]⁠⁠⁠ Conéctate con SRF (@curesyngap1): ⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Video Podcast⁠⁠⁠ Semanal⁠⁠⁠⁠ con Mike Episodio 14 Café SYNGAP1, Abril 18, 2024 #CafeSYNGAP1 #Syngap #SYNGAP1 #CafeSYNGAP1Luhana #Peru #epilepsia #epilepsy #epilepsyawareness #autismo #autismawareness #discapacidadintelectual #id #enfermedadesraras #FondodeInvestigacionSYNGAP #SynGAPResearchFund #abogacia #advocacy #patientadvocacy #neurologia #pruebasgeneticas #terapias #familia #apoyo

Show Notes Rainy Schlosser is in the middle of a 7,500 mile drive-a-thon to participate in 3 studies to help find a cure for SYNGAP1. She talks with Ashley about the studies, her daughter Hope's incredibly difficult medical journey, what makes Hope happiest, an EEG with Curious George, and the wonderful connections they are making along the way! This is a fundraiser, so please check out Syngap.Fund/Hope4theCure! All episodes are available at ⁠⁠⁠⁠⁠⁠Syngap.Fund/Stories⁠⁠⁠⁠⁠⁠. ⁠⁠Hope's Warrior Story⁠⁠⁠ My SYNGAP1 Drive-a-thon, Hope4theCure Connect with Rainy & Hope: Instagram - @Hope4theCure YouTube - @Hope4theCure Facebook - Hope SelahMay Other Links Cannonball for the Cure Connect with ⁠⁠⁠⁠⁠⁠Ashley⁠⁠⁠⁠⁠⁠: ⁠⁠⁠⁠⁠⁠⁠[email protected]⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠Ashley's SRF Bio⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Nathan’s Warrior Story⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ SYNGAP1 Stories ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Episode 001⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ - Ashley Frye SRF & SYNGAP1 Info:⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠What is SYNGAP1?⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Syngap Research Fund⁠⁠ - ⁠⁠⁠⁠https://curesyngap1.org/⁠⁠⁠⁠ ⁠⁠⁠⁠SYNGAP1 Resources for Newly Diagnosed Families⁠⁠⁠⁠ ⁠Wednesday Warriors⁠ ⁠⁠⁠⁠Supporting SYNGAP1 Siblings⁠⁠⁠⁠ Donate - ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://Syngap.Fund/Donate⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP1 & Epilepsy⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Why Getting a Genetic Diagnosis Matters⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠How to Get Free Genetic Testing⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Special Needs Trusts⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠SYNGAP1 Family Day 2023 – A Beacon of Hope!⁠ (blog with videos) ⁠⁠⁠⁠Pre-register⁠⁠⁠⁠ for SYNGAP1 Conference 2024 Connect with SRF (@curesyngap1): ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Twitter⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ YouTube ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠SYNGAP10 Weekly Video Podcast⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠w/ Mike SynGAP Research Fund ⁠⁠⁠⁠⁠⁠⁠⁠Apple Podcast Channel⁠⁠⁠⁠⁠⁠⁠⁠ Family Zoom Meeting (Weekly on Wednesdays, 8PM ET): ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417 Sibling Zoom Meeting (Monthly on 1st Thursday, 8PM ET): ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Syngap.Fund/SRFfam⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Meeting ID - 972 0059 2178 Passcode - 848417 Comments: ⁠⁠⁠⁠⁠⁠[email protected]⁠⁠⁠⁠⁠⁠ Music: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠In the Forest... by Lesfm from Pixabay ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Episode 028 SYNGAP1 Stories, April 11, 2024 #SYNGAP1StoriesHope #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp28 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Family #Water #Music #SyngapConf #SYNGAP1Siblings #Caregiver #Elopement #Behavior #Communication #Hope4theCure #Driveathon

ONCE UPON A GENE - EPISODE 225 The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman Noah Siedman was a big brother to Ben who had Sanfilippo Syndrome, a devastating disease that leads to childhood dementia and premature death. He joins me to talk about his sibling experience and dealing with grief. EPISODE HIGHLIGHTS As a sibling under potential pressure to not be a burden, do you still carry those feelings even after Ben's passing? It's hard as a sibling to see everything your parents are facing that's out of your control. As a sibling, there's a need to be on top of your own care and your own emotions. There were no casual complaints in my family growing up. It was either a disaster or business as usual. Filling in that middle space where you have a bad day and want to talk about it didn't exist. We've had to work on that as a family because that's not how we've functioned.  What coping mechanisms help you to write and talk about your experience? I came to the realization that I was going to be emotionally vulnerable, which is uncomfortable. Knowing I would have to talk about my experience and brother, I had to accept it, put it out front, and get really good at talking about it comfortably. I got more comfortable talking about the progression of my brother's disease and my feelings around him, and I used it as a shield.  What would you say to the young person who is living the same life you were living and what questions should people ask that person? The first thing that I would say, and maybe the best thing to ask that person, is about their roles. When do you feel like a sibling? When do you feel like a caregiver? When do you feel like you're an advocate? When do you feel like you are just you? I got stuck in trying to be a lot of those things at once, where the easiest role to ignore was being just me. But everything you push down morphs into something worse. Frustration turns into resentment, fear turns into trepidation, sadness becomes melancholy.  What are the misconceptions people have about death? The biggest problem with grief is that no amount of experience is applicable. It defies the ability to be prepared for it or to use your past to help you cope. I don't think grief gets easier, I think you get better at it. Those that try to give advice to people that are grieving are hanging on to the idea that that time will heal. It's not that your grief goes away, it's that you get better at it. How has your relationship with your sister changed? Ben's death brought us closer and we do a good job of communicating despite handling things differently. There's no right or wrong way to navigate life with a sibling who has a genetic disorder, so we don't judge each other and we're honest with each other.  As a parent, how do you help siblings to have a better experience? Abandon the idea that you owe siblings normalcy. My parents put a lot of effort into delivering normal childhood experiences. Instead, put that energy into helping your children articulate what they want. More important than chasing normal is helping siblings decide what's important to them and how to pursue it. LINKS & RESOURCES MENTIONED ONCE UPON A GENE - Episode 109 - A Rare Collection - What I Know For Sure with Noah Siedman, Grayson Skibington and Nash Hawkins https://effieparks.com/podcast/episode-109-what-i-know-for-sure CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

TOGETHER WE ARE STRONGER  - 1,400 strong, thank you Jess & team. https://curesyngap1.org/blog/syngap1-census-2024-update-61-in-q1-2024-total-1400/  - Stoke webinar: one of the most important considerations for deciding which disease to work on was, “…how strong is the patient advocacy group?”   - Stoke CMO Barry Ticho, MD, PhD, FACC during webinar 4/2/24 to discuss findings of STK-001   WELCOME AND CONNECT  - New parents are coming fast, reach out to them, tell them how much hope to have.  - Connect, connect, connect.   - San Diego next week: https://curesyngap1.org/resources/movies/jaxon/   - Hope https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/ - TU to Emily Barnes who is at FasterCures meeting today in Boston, see #S10e98 to see my thoughts about this workshop https://www.youtube.com/watch?v=iOLjUdVUtqo   TEAM IS GROWING  BOARD - https://www.eurekalert.org/news-releases/1038978  CSO - https://www.eurekalert.org/news-releases/1040061  COO - You?   PRESS  - UK https://www.channel4.com/news/govt-send-funding-boost-still-billions-short-says-tory-mp-with-affected-family/  - GA https://www.gpb.org/news/2024/04/03/80-of-rare-diseases-are-genetic-thats-why-whole-genome-sequencing-can-help/    What does my genetic report mean?  We wrote a blog, but as I’ve had this conversation a few dozen times, my answer is simpler now.  Is it missense or is it truncating?  If missense, do more research, if truncating, it is in the first 4 exons (p. Address of 129 or lower). Who else has it?  Look on ClinVar and call SRF. Blog: https://curesyngap1.org/blog/understanding-your-genetic-report-with-syngap1-a-rare-disease/   STUDIES https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/  CHOP: [email protected]  Adults:  - Press Release: https://www.eurekalert.org/news-releases/1040062  - Study Info:  https://drive.google.com/file/d/1tOdodcV7E5ROOHWyLn8a48x1WNBOr-U2/view  QOL: https://Syngap.Fund/QOL24 39 and counting.   #Sprint4Syngap 2024 Total: $168,572 from 347 people Tavilla: $126,385 from 62 Big thanks to them and all teams especially those already over $1k, Phoebe, Kaia, Louie, Kiera, Theo, Hadley & Gracyn. https://curesyngap1.org/events/featured/sprint4syngap-2024/ https://givebutter.com/ALjJXJ   REPURPOSING  - NAL, blog coming.  - Ravicti, enrolled, and blog on Butyrate coming.  - Nortriptyline, has been game changing, discussing a larger trial.   REFLECTIONS  - Family Medical Leave Act #FMLA https://www.dol.gov/general/topic/benefits-leave/fmla  - Homeschooling… again, avoid the kneejerk.  See #S10e64 https://www.youtube.com/watch?v=01uhSjxGgGE    - Tony update.  Grateful and grieving.   SOCIAL MATTERS 967 Subscribers on YouTube.  https://www.youtube.com/@CureSYNGAP1  3,483 Subscribers on LinkedIn.  https://www.linkedin.com/company/18940628/admin/feed/posts/ Socials matters so we can find more people, like this: https://curesyngap1.org/blog/an-emotional-journey-begins-after-a-syngap1-diagnosis/    Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917   Episode 138 of #Syngap10 - April 4, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1